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General description of the gene and the encoded protein(s) using information from HGNC and Ensembl, as well as predictions made by the Human Protein Atlas project.
Gene namei
Official gene symbol, which is typically a short form of the gene name, according to HGNC.
Membrane associated guanylate kinase, WW and PDZ domain containing 2
Protein classi
Assigned HPA protein class(es) for the encoded protein(s).
Disease related genes Human disease related genes Potential drug targets Transporters
Predicted locationi
All transcripts of all genes have been analyzed regarding the location(s) of corresponding protein based on prediction methods for signal peptides and transmembrane regions.
Genes with at least one transcript predicted to encode a secreted protein, according to prediction methods or to UniProt location data, have been further annotated and classified with the aim to determine if the corresponding protein(s) are secreted or actually retained in intracellular locations or membrane-attached.
Remaining genes, with no transcript predicted to encode a secreted protein, will be assigned the prediction-based location(s).
The annotated location overrules the predicted location, so that a gene encoding a predicted secreted protein that has been annotated as intracellular will have intracellular as the final location.
Gene information from Ensembl and Entrez, as well as links to available gene identifiers are displayed here. Information was retrieved from Ensembl if not indicated otherwise.
Chromosome
7
Cytoband
q21.11
Chromosome location (bp)
78017055 - 79453667
Number of transcriptsi
Number of protein-coding transcripts from the gene as defined by Ensembl.
Useful information about the protein provided by UniProt.
Seems to act as a scaffold molecule at synaptic junctions by assembling neurotransmitter receptors and cell adhesion proteins (By similarity). Plays a role in nerve growth factor (NGF)-induced recruitment of RAPGEF2 to late endosomes and neurite outgrowth (By similarity). May play a role in regulating activin-mediated signaling in neuronal cells (By similarity). Enhances the ability of PTEN to suppress AKT1 activation 1. Plays a role in receptor-mediated clathrin-dependent endocytosis which is required for ciliogenesis (By similarity)....show less
Biological process (UniProt)i
Keywords assigned by UniProt to proteins because they are involved in a particular biological process.
Endocytosis, Neurogenesis
Gene summary (Entrez)i
Useful information about the gene from Entrez
The protein encoded by this gene interacts with atrophin-1. Atrophin-1 contains a polyglutamine repeat, expansion of which is responsible for dentatorubral and pallidoluysian atrophy. This encoded protein is characterized by two WW domains, a guanylate kinase-like domain, and multiple PDZ domains. It has structural similarity to the membrane-associated guanylate kinase homologue (MAGUK) family. [provided by RefSeq, Jul 2008]...show less
PROTEIN INFORMATIONi
The protein information section displays alternative protein-coding transcripts (splice variants) encoded by this gene according to the Ensembl database.
The Splice variant identifier links to the Ensembl website protein summary for the selected splice variant. The data in the Swissprot and TrEMBL columns links to corresponding pages in the UniProt database.
The protein classes assigned to this protein are shown if expanding the data in the protein class column. Parent protein classes are in bold font and subclasses are listed under the parent class.
The length of the protein (amino acid residues according to Ensembl), molecular mass (kDalton), predicted signal peptide and number of predicted transmembrane region(s) according to in-house majority decision methods based on sets of predictors are also reported.
Q86UL8 [Direct mapping] Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 2
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Transporters Accessory Factors Involved in Transport Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Disease related genes Potential drug targets Human disease related genes Urinary system diseases Kidney diseases Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014)
Q86UL8 [Direct mapping] Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 2
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Transporters Accessory Factors Involved in Transport Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Disease related genes Potential drug targets Human disease related genes Urinary system diseases Kidney diseases Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Ezkurdia et al 2014)
A0A0D9SFP3 [Direct mapping] Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 2
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Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Urinary system diseases Kidney diseases Protein evidence (Ezkurdia et al 2014)
A0A0D9SF86 [Direct mapping] Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 2
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Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Urinary system diseases Kidney diseases Protein evidence (Ezkurdia et al 2014)
E7EWI0 [Direct mapping] Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 2
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Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Urinary system diseases Kidney diseases Protein evidence (Ezkurdia et al 2014)
A0A0D9SFY9 [Direct mapping] Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 2
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Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Urinary system diseases Kidney diseases Protein evidence (Ezkurdia et al 2014)
A0A0E3D6M1 [Direct mapping] Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 2
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Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Urinary system diseases Kidney diseases Protein evidence (Ezkurdia et al 2014)
A0A0D9SEY4 [Direct mapping] Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 2
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Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Urinary system diseases Kidney diseases Protein evidence (Ezkurdia et al 2014)
A0A0D9SEZ7 [Direct mapping] Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 2
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Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Urinary system diseases Kidney diseases Protein evidence (Ezkurdia et al 2014)
A0A0D9SET0 [Direct mapping] Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 2
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Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Urinary system diseases Kidney diseases Protein evidence (Ezkurdia et al 2014)
A0A0D9SGI1 [Direct mapping] Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 2
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Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Urinary system diseases Kidney diseases Protein evidence (Ezkurdia et al 2014)
A0A0D9SGF8 [Direct mapping] Membrane associated guanylate kinase, WW and PDZ domain containing 2, isoform CRA_c; Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 2
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Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Urinary system diseases Kidney diseases Protein evidence (Ezkurdia et al 2014)
A0A0D9SGF2 [Direct mapping] Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 2
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Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Urinary system diseases Kidney diseases Protein evidence (Ezkurdia et al 2014)
A0A0U1RRH4 [Direct mapping] Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 2
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Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Urinary system diseases Kidney diseases Protein evidence (Ezkurdia et al 2014)
A0A1B0GUV4 [Direct mapping] Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 2
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Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Urinary system diseases Kidney diseases Protein evidence (Ezkurdia et al 2014)
A0A1B0GTH8 [Direct mapping] Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 2
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Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Urinary system diseases Kidney diseases Protein evidence (Ezkurdia et al 2014)
A0A1B0GUI9 [Direct mapping] Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 2
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Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Urinary system diseases Kidney diseases Protein evidence (Ezkurdia et al 2014)
A0A1B0GVS6 [Direct mapping] Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 2
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Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Urinary system diseases Kidney diseases Protein evidence (Ezkurdia et al 2014)
A0A1B0GTC0 [Direct mapping] Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 2
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Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Urinary system diseases Kidney diseases Protein evidence (Ezkurdia et al 2014)
A0A1B0GVS0 [Direct mapping] Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 2
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Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Urinary system diseases Kidney diseases Protein evidence (Ezkurdia et al 2014)
The Human Protein Atlas project is funded
